Combined 17 alpha-hydroxylase/17,20-lyase deficiency caused by heterozygous stop codons in the cytochrome P450 17 alpha-hydroxylase gene.

Rumsby, G

Combined 17 alpha-hydroxylase/17,20-lyase deficiency caused by heterozygous stop codons in the cytochrome P450 17 alpha-hydroxylase gene. [electronic resource] - Clinical endocrinology Oct 1993 - 483-5 p. digital

Publication Type: Case Reports; Journal Article

0300-0664

10.1111/j.1365-2265.1993.tb02397.x doi


Adrenal Hyperplasia, Congenital--genetics
Adult
Aldehyde-Lyases--deficiency
Base Sequence
Codon--genetics
Cytochrome P-450 Enzyme System--deficiency
DNA--analysis
Female
Humans
Molecular Sequence Data
Mutation--genetics
Polymerase Chain Reaction
Steroid 17-alpha-Hydroxylase--genetics